Special

HsaINT0128613 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140358792-140361925:-
Coord C1 exon
chr9:140361769-140361925
Coord A exon
chr9:140358909-140361768
Coord C2 exon
chr9:140358792-140358908
Length
2860 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
3' ss Seq
AATTCCACATGTGGCCCCAGGGC
3' ss Score
5.09
Exon sequences
Seq C1 exon
AGGCTGTGCCCAGGTGGGCGTTCTCAAGGCCTTGGCGGAGTGCGGCATCCCTGTGGACATGGTGGGAGGCACGTCCATCGGGGCCTTCGTGGGTGCCCTGTACTCTGAGGAGCGGAACTACAGCCAGATGCGGATCCGGGCCAAGCAGTGGGCCGAG
Seq A exon
GTAAGCAGGCACCCATCACCCTCACCGGAGCACAGCCCCCAGGTCCTTGCTGGTGCTGGGGGACGCTGGGGCCGTTGGCCTCTGCATGTGGCTCTGCAGGGCCCTGCCCTCGAGGAGGCTACCCCCTGAAGCCTCCCAGTGCAGCTTGTGAGGCAAAGGAGCACCACAGAGAAGGCACAGATGCAGGTTGGTGGTGGGAGGCGGTCTGATCTGTGCCCAGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCTGATCTGTGCCCGGGTCTGAGGTGATGGAGACGGTGGTGGGAGGCGGTCTGATCTGTGCACGGGTCTGAGATGGTGGAGACGGTGGTGGGAGGCGGTCTGATCCGTGCCCGGGTCTGAGATGGTGGAGACGGTGGTGGGAGGTGGTCTGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGTGGTCTGATCCGTGCCCGGGTCTGAGGTGATGGAGACGGTGGTGGGAGGTGGTCTGATCCGTGCCCGGGTCTGAGTTGGTGGAGACGGTGGTGGGAGGCGGTCTGATCCGTGCCCGGGTCTGAGTTGGTGGAGATGGTGGTGGGAGGTGGTCAGATCCGTGCCCGGGTCTGAGGTGATGGAGATGGTGGTGGGAGGTGGTCAGATCCGTGCCCGGGTCTGAGGTGATGGAGATGGTGGTAGGAGGTGGTCTGATCCGTGCCCAGGTCTGAGTTGGTGGAGGTGGTGGTGGGAAGTGGTCTGATCCGTGCCGGGGTCTGAGATGGTGGAGATGGTGGTGGGAGGTGGTCTGATCTGTGCCCGGGTCTTAGATGGTCGAGGTGGTGGTGGGAGGTGGTCTGTTCTGTGCCTGGGTCTGAGGTGGTGGAGACGGTGTTGGGAGGCGGTTTGATCCGTGCCCGGGTCTGAGATGGTGGAGATGGTGGTGGGAAGTGGTCTGATCTGTGCCCGGGTCTGAGTTGGTGGAGGTTGACGATGGGAGGCGGTCTGATCCGTGCCCGGGTCTGAGATGGTGGAGGTGGCTGCAGGATGACATGGATGCCAGGATTGTGGAAAAGAAGCTGACTGTTACAGCCCCTGGGAATAAGAGGCATGGAGCCTCCATGGGGGTTTCTGACCCAACGGCCAGGCAGGGCAGCGTGAGCAGCTGAGGATGGGCTGACTGAGTCCTTCAGGCACGCTGGGGGCCGTGGGGCTGTCCCTGGTGCATGGCACCCGGCCTGGGTTGATTTAGGGCAGGGAGATGTTGGCGTGGGGATGTGAGATCAGGTCAGGGCGGCTCAGTGTCACGGGGGAGATGTAAACTACTTTGGCCACTAGTCTGGCCTTGTGATAAATGGATTCCAGAATCAGAATACCAAATACAGAATCAAAGACAACAGTGAGAACAGGCTCCCCTCGGGCAGCAGAGGGAGGCAGCCAGGCTCCGTTCCCCAGCAGACGTGGCCACCGTCTGCCCTCCTCAGCGCTGCGCTTGCTTTTGTGGAACAAAACCGAGCTTTGGTTGGAGCCATGAGTGGGATCAGAAGGGTTCGTGTTCTCCTTTTAAAAGGAAAGAAAATTCGTCACCCCCTGTGCGGCAGCAGCTCCCAAGCAGGCCTGTGCTGCATTCACGTGGCCCGGGGCTGCCACCAGCCCCAGCAGCGAGTCCCAAGGCCACTGACACCTTCTCCCCTCTCTGTTCAGAAATGTTTCTTTCCCTAAAATGAGTCACCTAGTCACCTTCAGCGTGGCTGCTCAAAAGAGGGCTTGGGGACTGGCATGCAGCAGGACGGCCCCAGGGACAGCGTCCTCGGGACAGAACCCGCCATGGGCAGAGGTGGCTCCGAGCCGGTCCTGTCCCAGAGTCACCTGGTGGCCCTCTCCCTGTCCCTCCGTCTGTGGGTCTGGGGCTGGGGGGCCAGGTGTGGGAATGGCCAGAGCTCTCTGGGCTGGTCCTCTTTCCGTGCTGGGATCACTGGGCCCTGGGAACTGGCCGGGGCAAGGTGAGGCCGGGGCTGTGTGCCTGCCCCTCATGCTGAGGAGAGGGGACAGTGGGCGTGTGGTCTGGCTTATCTCTGTGAGCCCCTCTGGTACTGGGCAGGGGCTTCCTCAGGGAAGGACCGGGGTCTCCTCTGCCTGTGGCCGAGGCGTTCTCACTGCCTGCATCACACGGTGTAAGCACGTCCAGCCCACACTCCAAGCGCTTCCCTCCCAGCCTCCGTCCCCTGAGCCCTGGCTCACTATGGCAGGGAAGACCCTTCCTCTCCATCCACACTGGGCATTGAGGCTAGTTTGAGGTCAGTCTCGAGTCCTGCCTGCCTCACTGAGGAAGGATGGGCCCCAGGCCCACCCAGAAGGAACCCAAGAGAGCCCGGCTTCCCCGGGACCCCTGATGGAGTACCGCAGTGGCATGTGAGCCAGGGCTGGGTGGCTCTGACCTTCCCGAAAGCAATCCACTGTGTCCCCCTGGCCCAGGAACCTCATGTGCCCAGCAGCCCGCCCCGAGCTCTCCTCCTCGCTGACCCTCCAGCCACGGGCATGGGCAGGCCTTGCCCCAGAGCTGAGCAGGCAAAGCCGAGGAGGCCCCAGGCATGGGGGCGCTGCAGAGCCTGCGAGGGTAGGGCCAGCGAGGGCTTAGGGATCAGGAAGGGACCGAGGGTGGGCTGTGTCCTGGCTTTCAGGCCCTGGGGCGACCACCAGCCTCTGCTCACTCTGAGGCTCCAGCCAGGGCGCCAAGCCTCAGGACCGTGGGTGGGGCCCAAGGACACTCTGGACCCCCGTTCCATTCATGAGAGGCCCTCAGCACGCCACGTGTCTGCTGTGGCAGCCCGCAGGGAGGGTGGAAGCCTTCTGTAAATTCCACATGTGGCCCCAG
Seq C2 exon
GGCATGACGTCCTTGATGAAGGCCGCGCTGGACCTCACCTACCCCATCACGTCCATGTTCTCCGGAGCCGGCTTCAACAGCAGCATCTTCAGCGTCTTCAAGGACCAGCAGATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-PNPLA7:NM_152286:25
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0173417=Patatin=FE(31.1=100)
A:
NA
C2:
PF0173417=Patatin=FE(22.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development